A comprehensive global genotype–phenotype database for rare diseases

Por Trujillano, Daniel, Oprea, Gabriela‐Elena, Schmitz, Yvonne, Bertoli‐Avella, Aida M., Abou Jamra, Rami, Rolfs, Arndt
Publicado no Mol Genet Genomic Med (2016)

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Por Brusse, Esther, Majoor-Krakauer, Danielle, de Graaf, Bianca M., Visser, Gerhard H., Swagemakers, Sigrid, Boon, Agnita J.W., Oostra, Ben A., Bertoli-Avella, Aida M.
Publicado em 2009

Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

Por Punzo, Francesca, Bertoli-Avella, Aida M, Scianguetta, Saverio, Della Ragione, Fulvio, Casale, Maddalena, Ronzoni, Luisa, Cappellini, Maria D, Forni, Gianluca, Oostra, Ben A, Perrotta, Silverio
Publicado em 2011

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity

Por Conte, Maria Luisa, Bertoli-Avella, Aida M., de Graaf, Bianca M., Punzo, Francesca, Lama, Giuliana, La Manna, Angela, Grassia, Carolina, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio
Publicado em 2008

Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

Por Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.
Publicado em 2011

ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux

Por Bertoli-Avella, Aida M., Conte, Maria Luisa, Punzo, Francesca, de Graaf, Bianca M., Lama, Giuliana, La Manna, Angela, Polito, Cesare, Grassia, Carolina, Nobili, Bruno, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio
Publicado em 2008

Identification of RNA binding motif proteins essential for cardiovascular development

Por Maragh, Samantha, Miller, Ronald A, Bessling, Seneca L, McGaughey, David M, Wessels, Marja W, de Graaf, Bianca, Stone, Eric A, Bertoli-Avella, Aida M, Gearhart, John D, Fisher, Shannon, McCallion, Andrew S
Publicado em 2011

A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population

Por Liu, Fan , Arias-Vásquez, Alejandro , Sleegers, Kristel , Aulchenko, Yurii S. , Kayser, Manfred , Sanchez-Juan, Pascual , Feng, Bing-Jian , Bertoli-Avella, Aida M. , van Swieten, John , Axenovich, Tatiana I. , Heutink, Peter , van Broeckhoven, Christine , Oostra, Ben A. , van Duijn, Cornelia M. 
Publicado em 2007

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder

Por Vegt, Rinus, Bertoli-Avella, Aida M, Tulen, Joke H M, de Graaf, Bianca, Verkerk, Annemieke J M H, Vervoort, Jeroen, Twigt, Carla M, Maat-Kievit, Anneke, van Tuijl, Ruud, van der Lijn, Marieke, Hengeveld, Michiel W, Oostra, Ben A
Publicado em 2010

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection with Intracranial and Other Arterial Aneurysms

Por Regalado, Ellen S., Guo, Dong-chuan, Villamizar, Carlos, Avidan, Nili, Gilchrist, Dawna, McGillivray, Barbara, Clarke, Lorne, Bernier, Francois, Santos-Cortez, Regie L., Leal, Suzanne M., Bertoli-Avella, Aida M., Shendure, Jay, Rieder, Mark J., Nickerson, Deborah A, Milewicz, Dianna M.
Publicado em 2011

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Por Brooks, Alice S. , Bertoli-Avella, Aida M. , Burzynski, Grzegorz M. , Breedveld, Guido J. , Osinga, Jan , Boven, Ludolf G. , Hurst, Jane A. , Mancini, Grazia M. S. , Lequin, Maarten H. , de Coo, Rene F. , Matera, Ivana , de Graaff, Esther , Meijers, Carel , Willems, Patrick J. , Tibboel, Dick , Oostra, Ben A. , Hofstra, Robert M. W. 
Publicado em 2005

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Por Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.
Publicado em 2009

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Por Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian ER, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami
Publicado no Eur J Hum Genet (2017)

NPHP4 Variants are Associated with Pleiotropic Heart Malformations

Por French, Vanessa M., van de Laar, Ingrid M.B.H., Wessels, Marja W., Rohe, Christan, Roos-Hesselink, Jolien W., Wang, Guangliang, Frohn-Mulder, Ingrid M.E., Severijnen, Lies-Anne, de Graaf, Bianca M., Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A., Willemsen, Rob, Devriendt, Koen, Belmont, John W., Oostra, Ben A., Amack, Jeffrey D., Bertoli-Avella, Aida M.
Publicado em 2012

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

Por Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Publicado no J Am Coll Cardiol (2015)